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DOI 10.1136/bcr-2021-242376

Медицинская библиотека · BMJ case reports · 2021

Long-term follow-up of a child with Wolcott-Rallison syndrome.

Shah Nikhil, Karguppikar Madhura Bharat, Khadilkar Vaman, Khadilkar Anuradha

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Аннотация

Wolcott-Rallison syndrome (WRS), the most common cause of permanent neonatal diabetes mellitus (DM) in consanguineous families, has a poor prognosis, with a mean survival of 5.8 years. Majority of children with WRS succumb to the disease in the first decade of life. We present the long-term follow-up of an 8-year-2-month-old girl with genetically proven WRS who was born to a non-consanguineous parentage. She is on basal bolus regimen of insulin therapy for DM. In addition, she was noted to have features of skeletal dysplasia at 3 years and 3 months of age, which has led to her short stature. Surprisingly, she has had no episodes of hepatitis or liver dysfunction so far, which is frequently seen in children with WRS. To the best of our knowledge, she is the oldest surviving patient with WRS reported in India and South Asia.

Для цитирования: Shah Nikhil, Karguppikar Madhura Bharat, Khadilkar Vaman, Khadilkar Anuradha. Long-term follow-up of a child with Wolcott-Rallison syndrome.. BMJ case reports. 2021. DOI: 10.1136/bcr-2021-242376.

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